PPP1R3A protein phosphatase 1, regulatory subunit 3A [Homo sapiens] - Gene

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Summary

Official Symbol: PPP1R3Aprovided by HGNC
Official Full Name: protein phosphatase 1, regulatory subunit 3Aprovided by HGNC
Primary source: HGNC:9291
See related: Ensembl:ENSG00000154415; HPRD:02950; MIM:600917; Vega:OTTHUMG00000156944
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GM; PP1G; PPP1R3
Summary: The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 7q31.1

Sequence :: Chromosome: 7; NC_000007.13 (113516882..113559082, complement)

See PPP1R3A in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Association of a polymorphism of the apolipoprotein E gene with chronic kidney disease in Japanese individuals with metabolic syndrome.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Genetic variability in the insulin signalling pathway may contribute to the risk of late onset Alzheimer's disease.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Allele frequencies for candidate genes in atherosclerosis and diabetes among Trinidadian neonates.
PPP1R3A C1984DeltaAG (stop codon 668) isthe 1st prevalent mutation that directly impairs glycogen synthesis & decreases glycogen levels in human skeletal muscle. It is present in approximately 1 in 70 UK whites.
Title: A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice.
Inactivation of PPP1R3 gene is associated with tumor progression and metastasis of colorectal cancers
Title: PPP1R3 gene (protein phosphatase 1) alterations in colorectal cancer and its relationship to metastasis.
We describe a family in which five individuals with severe insulin resistance, but no unaffected family members, were compound heterozygous with respect to frameshift/premature stop mutations in two unlinked genes, PPARG and PPP1R3A
Title: Digenic inheritance of severe insulin resistance in a human pedigree.
G(M) promotes glycogen storage and inversely regulates glycogen synthase and glycogen phosphorylase activities, while, specifically, synthase phosphatase activity of G(M)-PP1 is inhibited by glycogen.
Title: Regulation and function of the muscle glycogen-targeting subunit of protein phosphatase 1 (GM) in human muscle cells depends on the COOH-terminal region and glycogen content.
Among the largest cohort of nondiabetic subjects (Caucasian, n = 112), the presence of the deletion allele (ARE-2) was associated with insulin resistance and hyperandrogenemia.
Title: Association of the (AU)AT-rich element polymorphism in PPP1R3 with hormonal and metabolic features of polycystic ovary syndrome.
A joint effect between the Asp905 and BMI increases the risk of type 2 diabetes, and Asp905Tyr and ARE polymorphism of PPP1R3 gene are not the major diabetogenic gene variants in Chinese population.
Title: The association between PPP1R3 gene polymorphisms and type 2 diabetes mellitus.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Insulin resistance, severe, digenic

MIM: 604367

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Products	Interactant	Other Gene	Source	Pubs	Description
Q16821	P26678	PLN	HPRD	PubMed
Q16821	Q16821	PPP1R3A	HPRD	PubMed
Q16821	Q15418	RPS6KA1	HPRD	PubMed
BioGRID:111499	BioGRID:107140	BRCA1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111499	BioGRID:111365	PLN	BioGRID	PubMed	Reconstituted Complex

Process	Evidence Code	Pubs
carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
glycogen metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: protein phosphatase 1 regulatory subunit 3A

Names: protein phosphatase 1 regulatory subunit 3A; RG1; protein phosphatase 1 regulatory subunit GM; serine /threonine specific protein phosphatase; protein phosphatase type-1 glycogen targeting subunit; protein phosphatase 1, regulatory (inhibitor) subunit 3A; protein phosphatase 1 glycogen-associated regulatory subunit; protein phosphatase 1 glycogen- associated regulatory subunit; glycogen-associated regulatory subunit of protein phosphatase-1; glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle; type-1 protein phosphatase skeletal muscle glycogen targeting subunit

NP_002702.2

EC 3.1.3.16

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012116.1 RefSeqGene

Range

5001..47201

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002711.3 → NP_002702.2 protein phosphatase 1 regulatory subunit 3A

Status: REVIEWED

Source sequence(s)

AC092465, BC126451, DB527300, X78578

Consensus CDS

CCDS5759.1

UniProtKB/Swiss-Prot

Q16821

Related

ENSP00000284601, OTTHUMP00000211089, ENST00000284601, OTTHUMT00000346724

Conserved Domains (1) summary

pfam03370
Location:142 – 229
Blast Score: 321

CBM_21; Putative phosphatase regulatory subunit

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p5 Primary Assembly

Range

113516882..113559082, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

107880214..107922483, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

112912237..112954446, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC092465.5	AAS07492.1
genomic	AC093598.4	AAP22361.1
genomic	AF024576.1	AAB94596.1
genomic	AF024578.1	AAB94596.1
genomic	CH236947.1	EAL24370.1
genomic	CH471070.1	EAW83477.1
		EAW83478.1
mRNA	AF024579.1	AAB94597.1
mRNA	BC017405.1	None
mRNA	BC056666.1	None
mRNA	BC070313.1	None
mRNA	BC126451.1	AAI26452.1
mRNA	BC126453.1	AAI26454.1
mRNA	BF576879.1	None
mRNA	DB527300.2	None
mRNA	X78578.1	CAA55316.1
other-genetic	BC111452.3	AAI11453.1
other-genetic	HQ258594.1	ADR83347.1